A13T (p.Ala13Thr) variant of FKRP (Q9H9S5)
A13T (p.Ala13Thr) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Walker-Warburg congenital muscular dystrophy; Cardiovascular pheno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- rs768376273
- ClinGen CA9532098
- ClinVar RCV000543616
- ClinVar RCV000786132
- Uncertain significance
- not provided; Walker-Warburg congenital muscular dystrophy; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.64
- CADD 24.60
- PolyPhen-2 0.89
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; Walker-Warburg congenital muscular dystrophy; Card)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available